Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Summary Literature (0)
DOID:4997 - Camurati-Engelmann disease

Disease Ontology Definition:An osteosclerosis that has_material_basis_in mutations in the TGFB1 gene which results_in increased bone density located_in long bone.

Synonyms: Diaphyseal dysplasia, Engelman's disease, progressive diaphyseal dysplasia,

Xenbase Genes : tgfb1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0007542 - Camurati-Engelmann disease


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): monogenic disease (is_a), osteosclerosis (is_a)